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rs80359267

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;C) 6 BRCA2 variant considered pathogenic for breast cancer
(C;C) 0 common in clinvar


Make rs80359267(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32332697
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359267
ebirs80359267
HLIrs80359267
Exacrs80359267
Varsomers80359267
Maprs80359267
PheGenIrs80359267
hapmaprs80359267
1000 genomesrs80359267
hgdprs80359267
ensemblrs80359267
gopubmedrs80359267
geneviewrs80359267
scholarrs80359267
googlers80359267
pharmgkbrs80359267
gwascentralrs80359267
openSNPrs80359267
23andMers80359267
23andMe allrs80359267
SNP Nexus

SNPshotrs80359267
SNPdbers80359267
MSV3drs80359267
GWAS Ctlgrs80359267
Max Magnitude6
rs80359267, also known as 1447delC, c.1219_1219delC and p.Gln407Argfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359267(;)
Alt rs80359267(;)
Reference rs80359267(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32906834delC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043759.2, RCV000112894.1, RCV000166980.1,